Canonical Allele Identifier: CA339832756

Gene: TRIT1

Linked Data

• dbSNP Id: rs1642282087
• gnomAD v3: 1-39847262-C-T
• gnomAD v4: 1-39847262-C-T
• MyVariant Identifiers: chr1:g.40312934C>T (hg19) ; chr1:g.39847262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847262C>T , CM000663.2:g.39847262C>T	GRCh38
NC_000001.10:g.40312934C>T , CM000663.1:g.40312934C>T	GRCh37
NC_000001.9:g.40085521C>T	NCBI36
NG_042822.1:g.41250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.964G>A MANE Select	ENSP00000321810.5:p.Ala322Thr
ENST00000648678.1:c.1856G>A	ENSP00000497805.1:n.1856G>A
ENST00000316891.9:c.964G>A	ENSP00000321810.5:p.Ala322Thr
ENST00000372818.5:c.928+286G>A	ENSP00000361905.1:n.928+286G>A
ENST00000441669.6:c.718G>A	ENSP00000388333.2:p.Ala240Thr
ENST00000462797.5:c.964G>A	ENSP00000473773.1:p.Ala322Thr
ENST00000465417.5:n.148G>A
ENST00000467774.1:n.246G>A
ENST00000489945.5:c.*382G>A	ENSP00000473745.1:n.*382G>A
ENST00000491865.5:n.199G>A
ENST00000492612.6:c.808G>A
ENST00000495175.6:c.*386G>A	ENSP00000474264.1:n.*386G>A
ENST00000537440.5:c.52G>A	ENSP00000437700.1:p.Ala18Thr
ENST00000541099.5:c.-140-2622G>A	ENSP00000437896.1:n.-140-2622G>A
NM_001312691.1:c.928+286G>A	NP_001299620.1:n.928+286G>A
NM_001312692.1:c.718G>A	NP_001299621.1:p.Ala240Thr
NM_017646.4:c.964G>A	NP_060116.2:p.Ala322Thr
NM_017646.5:c.964G>A	NP_060116.2:p.Ala322Thr
NR_132401.1:n.980G>A
NR_132402.1:n.838G>A
NR_132403.1:n.834G>A
NR_132404.1:n.834G>A
NR_132405.1:n.830G>A
NR_132406.1:n.721G>A
NR_132407.1:n.598G>A
NR_132408.1:n.594G>A
NR_132409.1:n.455G>A
NR_132410.1:n.481G>A
NR_132412.1:n.342G>A
NR_132413.1:n.195-2622G>A
NR_132414.1:n.195-5349G>A
NR_132415.1:n.1071G>A
XM_005270954.1:c.721G>A	XP_005271011.1:p.Ala241Thr
XM_006710706.1:c.541G>A	XP_006710769.1:p.Ala181Thr
XM_005270954.2:c.721G>A	XP_005271011.1:p.Ala241Thr
XR_946672.2:n.1064G>A
NM_017646.6:c.964G>A MANE Select	NP_060116.2:p.Ala322Thr